Canonical Allele Identifier: CA2547823408
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102231887_102231891del , CM000670.2:g.102231887_102231891del GRCh38
NC_000008.10:g.103244115_103244119del , CM000670.1:g.103244115_103244119del GRCh37
NC_000008.9:g.103313291_103313295del NCBI36
NG_016617.1:g.12232_12236del , LRG_788:g.12232_12236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.204+262_204+266del MANE Select ENSP00000251810.3:n.204+262_204+266del
ENST00000251810.7:c.204+262_204+266del ENSP00000251810.3:n.204+262_204+266del
ENST00000395912.6:c.49-5853_49-5849del ENSP00000379248.2:n.49-5853_49-5849del
ENST00000517517.1:n.513+262_513+266del
ENST00000519317.5:c.48+6940_48+6944del ENSP00000430641.1:n.48+6940_48+6944del
ENST00000519962.5:c.48+6940_48+6944del ENSP00000429140.1:n.48+6940_48+6944del
ENST00000522368.5:c.373+262_373+266del
ENST00000522394.1:c.122+344_122+348del ENSP00000429578.1:n.122+344_122+348del
ENST00000523957.1:c.*127+262_*127+266del ENSP00000427830.1:n.*127+262_*127+266del
ENST00000621845.1:c.42+262_42+266del ENSP00000484318.1:n.42+262_42+266del
NM_001172477.1:c.420+262_420+266del , LRG_788t1:c.420+262_420+266del NP_001165948.1:n.420+262_420+266del
NM_001172478.1:c.49-5853_49-5849del NP_001165949.1:n.49-5853_49-5849del
NM_015713.4:c.204+262_204+266del , LRG_788t2:c.204+262_204+266del NP_056528.2:n.204+262_204+266del
NM_001172478.2:c.49-5853_49-5849del NP_001165949.1:n.49-5853_49-5849del
NM_015713.5:c.204+262_204+266del MANE Select NP_056528.2:n.204+262_204+266del